RESUMEN

We report a case of neonatal purpura fulminans associated with activated protein C resistance. Analysis of DNA demonstrated heterozygosity for the factor V R506Q mutation. The neonate, at 8 hours of age, had progressive purpuric skin lesions and later had evidence of microvascular, hemorrhagic thrombosis in the brain. The baby was treated with fresh frozen plasma infusions and had complete resolution of the skin lesions and no apparent long-term complications. We suggest that activated protein C resistance testing be included in the initial evaluation of neonatal purpura fulminans.

Asunto(s)

Factor V/genética , Púrpura/genética , Secuencia de Bases , ADN/genética , Femenino , Humanos , Recién Nacido , Embolia y Trombosis Intracraneal/sangre , Datos de Secuencia Molecular , Mutación , Reacción en Cadena de la Polimerasa , Proteína C/metabolismo , Tiempo de Protrombina , Púrpura/sangre